Canonical Allele Identifier: CA2560637845
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216070464C>T , CM000663.2:g.216070464C>T GRCh38
NC_000001.10:g.216243806C>T , CM000663.1:g.216243806C>T GRCh37
NC_000001.9:g.214310429C>T NCBI36
NG_009497.1:g.357933G>A
NG_009497.2:g.357985G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.5858-172G>A MANE Select ENSP00000305941.3:n.5858-172G>A
ENST00000674083.1:c.5858-172G>A ENSP00000501296.1:n.5858-172G>A
ENST00000307340.7:c.5858-172G>A ENSP00000305941.3:n.5858-172G>A
NM_206933.2:c.5858-172G>A NP_996816.2:n.5858-172G>A
NM_206933.3:c.5858-172G>A NP_996816.2:n.5858-172G>A
NM_206933.4:c.5858-172G>A MANE Select NP_996816.3:n.5858-172G>A
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